No paralogue variants have been mapped to residue 1858 for RYR2.
RYR2 | LLIMGIFHNEDLKHILQLIEPSVFKEAATP>E<EESDTL--E-K---ELS----VDDAK-LQG | 1877 |
RYR1 | LLVMGIFGDEDVKQILKMIEPEVFTEEEEE>E<DEEEEGEEEDEEEKEEDEEETAQEKEDEEK | 1908 |
RYR3 | LLVMGVFDDDDVRQILLLIDPSVFGEHSAG>T<EEGAEK--E-E---VTQ----VEEKA-VEA | 1781 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1858V | c.5573A>T | Putative Benign | SIFT: Polyphen: | ||
p.E1858G | c.5573A>G | Putative Benign | SIFT: Polyphen: |